Evidence Details for PSD3

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	PSD3 ( DKFZp761K1423,EFA6R,HCA67 )
Gene Full Name:	pleckstrin and Sec7 domain containing 3
Band:	8p22
Quick Links	Entrez ID:23362; OMIM: NA; Uniprot ID:PSD3_HUMAN; ENSEMBL ID: ENSG00000156011; HGNC ID: 19093
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>PSD3|23362|nucleotide
ATGGAAGGAAGGAGCGCAGCGGCAGAGACATTTGTTTGGGTGAACAATGCATCTGCACATTCCCAGAGTGTTGCCAAGGCCAAATATGAATTTTTATTTGGCAGA
TCTGAAGGGAAAGCTCCAGATACTAGTGATCATGGAGGAAGCACTTTACTCCCACCAAATGTCACAAATGAATTTCCAGAATATGGGACCATGGAGGAAGGTGGA
GAAGGCCTAAGGGCTTCTCTGGAATTTGATGGTGAGGCTCTGCCATGCCACCCACAAGAGCAGCAGGGTGTCCAGCCTCTTACTGGCTGCCACTCTGGGCTCGAC
AGTGTTACAGAAGGACCAAAAGATGTCAGAGAGGCCCCCTCTCAAAGTCATCTCAAGGAACAAAGTTTACAGCCCATTGACTCTTTGATTTCAGCTCTGAAAGCC
ACAGAAGCCAGAATCATTTCCGGAACATTACAGGCTACAAAGGTACTGGACCAAGATGCTGTTTCTAGTTTTTCAGTTCAGCAGGTGGAAAAAGAGCTGGACACT
GCCAGTCGTAAAACACAGAGAGTCAACAAAACGCTCCCTGCTGGCCAAAAAAATTTACCAGAAATACCTCTTTCAGCTGAAGTAACAACGGAGGAAAGTTTTTAT
TTGAGCATCCAGAAAGATCTCACCGCGCTGTTAACTGGAGACACTCAGGCAGAGATTTCCCAGATAATGAATAATGGGAGGAAAGGGGCTGTCTGTGTGCAGGAG
CCATCTTGTCCTTTGGCCTCCCTCGGGAGCTCAGCAGTGACCTGCCACTCTGCAGGCAGTGTTGGTTTCTTGAAAGAGCAGAGGTCTGCTCTTGGGAGAGAGCAC
CCAGGGGGATGTGATCGAAGCAGCTCCATGGGACGCCCAGGCCGGGTCAAACATGTGGAATTTCAAGGAGTGGAAATACTGTGGACAGGAGGAGACAAGAGAGAG
ACCCAGCATCCTATAGATTTTGAGACATCACTGCAAAGAACAGCCTCTCCTGACAGCAAAGAGTCTTCCAAAGTGCCACGCCATCTCATCTCATCAGCTGGTTTG
TGTAATTCAAGTAGTTTAACTGAGAATGTTTGGGATGAATCCTGGAAAGCTCCTTCAGAGAGGCCTGGCACTAGCTCGGGGACATTTTCCCCTGTGCGTCTTGAT
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	3 (4)	1 (4)	1 (1)	0 (0)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	16 (10)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 4

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Ma, 2009_1	Discovery	Illumina's Human 1M v1 Beadchip	438	- (-)			ASD	- -	- -
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -
ASIAN
Cho, 2011_1	-	FUJIFLM DNA Whole Blood Kit S and QuickGene 810	42	42 (-)			ASD	77.7±22.6 months (49-149) months	46.2±12.2 (31-65)
MIXED/OTHERS
Connolly S, 2017_2	-	Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M	2591	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Papanikolaou, 2006	-	FISH			autism	-	-	-	-	1	-	1
Ozgen, 2009	-	aCGH, SNP microarray			ASD	55	-	-	-	-	-	-
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Berkel, 2010	Canada	SNP microarray			ASD	-	-	-	-	396	5023	5419

Linkage Studies Top

AutismKB 2.0

Evidence Details for PSD3